Catherine the Great of Russia is claimed to have said, ““A great wind is blowing, and that gives you either imagination or a headache” (As quoted in Daughters of Eve (1930) by Gamaliel Bradford, p. 192). That is the way I often feel about the future of autism research and practice. In the past we experienced more headaches than imagination, but increasingly our field is guided by remarkable empirical inspiration.
Epigenetics: Activation and Inactivation of Genes
An especially promising research area concerns factors that can turn genes on and off, called epigenetics, that means factor changing the way some genes work (Lederberg, 2001). Epigenetic factors can be biological or due to a child’s experience.
Biological factors may turn genes on or off: It is possible, but unproven, that the developing brain tissue of some individuals may be susceptible to another biological stressor, such as an infection, hormonal condition, or exposure to a brain toxin (such PCBs or high levels of prenatal alcohol), which together may cause genetically susceptible children to develop autism. This is called the “two hit” or “double hit” hypothesis of autism susceptibility (Gillberg and Coleman, 2000, page 253). It is unlikely all children are equally susceptible to the same injury. The future lies in identifying subtypes of autism with differential susceptibilities to various “second hits”. That is important for two reasons. It leads to a more refined search for causes of some types that may be different from others, and ultimately possibly preventing autism among some subtypes. It also opens the way for clinical and educational research on differential interventions for various autism subtypes.
Social Factors Turn Genes On or Off: Not all epigenetic factors are chemicals or biological factors, like hormones or infections. Some factors that can effect gene activity are the child’s experiences, as the Morrow et. al. (2008) study showed. Rutter and co-workers have found quasi-autistic patterns following severe early global privation among children reared in some orphanages (Rutter et. al. 1999; Rutter et.al 2001). This suggests some forms of social deprivation at vulnerable developmental periods may have lasting effects not previously recognized. This notion is similar to Paul Meehl’s theory of schizophrenia (Meehl, 1962) which hypothesized that only genetically susceptible people subjected to certain life stressors actually developed schizophrenia. Enhanced early intervention among siblings and other relative of children with autism, even before significant autism symptoms emerge, may make it possible to compensate for this social vulnerability, preventing autism in some children.
Combining Medication and Early Behavioral Intervention:
Another promising line of work combines medication to promote brain connectivity with intensive early intervention, possibly as early as one year to 18 months of age. Dr. Diane Chugani and her colleagues at Wayne State University have conducted very promising work suggesting that treating children diagnosed with autism at two years of age with low doses of a medicine (buspirone) that normalizes serotonin in brain cells of children with autism, which would otherwise be deficient (Edwards, Chugani, Chugani, Chehab, Malian, and Aranda, 2006). Proper levels of serotonin are necessary for normal brain connectivity. In addition, she and her colleagues found improvements in autism symptoms of youngsters treated with burspirone. Dr. Chugani is currently combining intensive early behavioral intervention with medication to determine whether they produce a synergistic effect, possibly preventing emergence of autism in some susceptible children (Chugani, personal communication, 3-15-2010). Related work suggests it may be possible to treat youngsters with Fragile X syndrome with a medication that corrects the balance of proteins that make components of brain synapses (Dolen, Carpenter, Ocain and Bear, 2010). About one quarter of children with Fragile X syndrome also have autism. Together with intensive early behavioral intervention, this may make it possible to reduce or eliminate many of the symptoms of autism among children with Fragile X and autism .
Optimizing Components of Intensive Early Behavioral Intervention:
Educational and health care cost containment mandates employing the most effective aspects of interventions for specific students or clients. The National Research Council Report, Educating Young Children with Autism (2000) and Reichow and Wolery’s (2008) quantitative summary of autism early intervention studies, contained two important conclusions: (1) Early Intensive Behavioral Intervention is highly effective for many children with autism, and (2) Which aspects of early behavioral intervention are responsible for these outcomes in subgroups of children is not well understood. We must do a better job of identifying which children benefit most from specific aspects and intensities of intervention. The goal is to identify which components of comprehensive early intervention treatments account for the bulk of treatment outcome, so children optimally benefit from more focused interventions. Growing evidence indicates that for children who are most responsive to Early Intensive Behavioral Intervention, the bulk of improvements occur in the first 12-18 months. It may prove possible to tailor make Blended Interventions that focus on child-specific skill needs and intervention methods to optimize gains during this period of rapid development (Thompson, 2010, In Press).
Family Factors in Intervention Effectiveness and Adjustment
After therapists and special teachers have finished their work with a child with autism and their family, it is up to parents to sustain the gains achieved and incorporate effective interventions into their lives. While nearly all children with autism spectrum disorders benefit from Early Intensive Behavioral Interventions, and the relation between parents and the child with autism greatly improve over the course of intervention, some families integrate these therapies into their families’ lives with greater ease than others. Strategies for determining which families will find EIBI approaches most compatible with their lives, and devising ways of reducing the stressfulness of intensive intervention for some parents, will be the focus of greater efforts drawing on the work of Grindle, Koshoff, Hastings and Remington, (2009) and Remington, Hastings, Koshoff, et. al. (2007).
Chugani, D. C. (2010). Conversation with Diane Chugani regarding research on buspirone and intensive early behavioral intervention, 3-15-2010
Dolen, G., Carpenter, R. L., Ocain, T. D., & Bear, M. F. (2010). Mechanism-based approaches to treating fragile X. Pharmacology and Therapeutics 2010 March 18, EPub ahead of print.
Gillberg, C., & Coleman, M. (2000). The Biology of the autistic syndromes, 3rd Edition. Cambridge, UK: Cambridge University Press.
Grindle CF, Kovshoff H, Hastings RP, Remington B. (2009) Parents' experiences of home-based applied behavior analysis programs for young children with autism. Journal of Autism and Developmental Disorders. 39(1):42-56.
Lederberg, J. (2001). The meaning of epigenetics. The Scientist, 15(8), 6.
Meehl, P. E. (1962). Schizotaxia, schizotypy, schizophrenia. American Psychologist, 17, 827-838.
Morrow, E. M., Yoo, S. Y., Flavell, S. W., Kim, T. K., Lin, Y., Hill, R. S. et al. (2008). Identifying autism loci and genes by tracing recent shared ancestry. Science, 321(5886), 218-223.
Reichow, B., & Wolery, M. (2009). Comprehensive synthesis of early intensive behavioral interventions for young children with autism based on the UCLA young autism project model. Journal of Autism and Develomental Disorders, 39(1), 23-41.
Remington B, Hastings RP, Kovshoff H, degli Espinosa F, Jahr E, Brown T, Alsford P, Lemaic M, Ward N. (2007) Early intensive behavioral intervention: Outcomes for children with autism and their parents after two years. American Journal on Mental Retardation. 112(6):418-38.
Rutter, M, Anderson-Wood, L, Beckett,, C, Bredenkamp, D, Castle, J, Groothues, C., Kreppner, J et. al. (1999). Quasi-autistic patterns following sefere early global privation. Journal of Child Psychology and Psychiatry, 40(4), 537-549.
Rutter, M., Kreppner, JM, O'Connor, TG and the English and Romanian Adoptees (ERA) study team (2001). Specificity and heterogeneity in children's responses to profound instiutional deprivation. British Journal of Psychiatry, 179, 97-103.
* Thompson, T. (2010) Beyond Labels: Individualized Autism Interventions. Baltimore, MD: Paul H. Brookes Publishing Co. [in press]